Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 12 | 108236003 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1 | 109539929 | 5 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 113381525 | intergenic variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 117018487 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 12303231 | intron variant | C/G | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 12 | 123924955 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 6 | 126395918 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 11 | 133848987 | upstream gene variant | C/T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 134059622 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 140459589 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 3 | 153973471 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 157080943 | upstream gene variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 15855547 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 158574301 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 2 | 164687940 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 17083253 | non coding transcript exon variant | G/A | snv | 6.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 172025679 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 19 | 18272696 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 18328201 | intergenic variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 18709498 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |